LAS1L (LAS1 like ribosome biogenesis factor)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 81887
Gene name LAS1 like ribosome biogenesis factor
Gene symbol LAS1L
Synonyms (NCBI Gene)
Las1Las1-likeMRXSWTSWTSdJ475B7.2
Chromosome X
Chromosome location Xq12
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs797044926 C>T Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs1057518699 G>A Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs1057522039 G>A Likely-pathogenic Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1602612611 C>T Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
44
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (44)
miRTarBase ID miRNA Experiments Reference
MIRT022244 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT051007 hsa-miR-17-5p CLASH 23622248
MIRT1104955 hsa-miR-181a CLIP-seq
MIRT1104956 hsa-miR-181b CLIP-seq
MIRT1104957 hsa-miR-181c CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (18)
GO ID Ontology Definition Evidence Reference
GO:0000460 Process Maturation of 5.8S rRNA IBA
GO:0000470 Process Maturation of LSU-rRNA IBA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0004519 Function Endonuclease activity IEA
GO:0005515 Function Protein binding IPI 22046132, 31288032
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300964 25726 ENSG00000001497
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y4W2
Protein name Ribosomal biogenesis protein LAS1L (Endoribonuclease LAS1L) (EC 3.1.-.-) (Protein LAS1 homolog)
Protein function Required for the synthesis of the 60S ribosomal subunit and maturation of the 28S rRNA (PubMed:20647540). Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTO
PDB 8FL2 , 8FL3 , 8FL4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04031 Las1 43 → 187 Las1-like Family
Sequence 
MSWESGAGPGLGSQGMDLVWSAWYGKCVKGKGSLPLSAHGIVVAWLSRAEWDQVTVYLFC
DDHKLQRYALNRITVWRSRSGNELPLAVASTADLIRCKLLDVTGGLGTDELRLLYGMALV
RFVNLISERKTKFAKVPLKCLAQEVNIPDWIVDLRHELTHKKMPHINDCRRGCYFVLDWL
QKTYWCRQLENSLRETWELEEFREGIEEEDQEEDKNIVVDDITEQKPEPQDDGKSTESDV
KADGDSKGSEEVDSHCKKALSHKELYERARELLVSYEEEQFTVLEKFRYLPKAIKAWNNP
SPRVECVLAELKGVTCENREAVLDAFLDDGFLVPTFEQLAALQIEYEDGQTEVQRGEGTD
PKSHKNVDLNDVLVPKPFSQFWQPLLRGLHSQNFTQALLERMLSELPALGISGIRPTYIL
RWTVELIVANTKTGRNARRFSAGQWEARRGWRLFNCSASLDWPRMVESCLGSPCWASPQL
LRIIFKAMGQGLPDEEQEKLLRICSIYTQSGENSLVQEGSEASPIGKSPYTLDSLYWSVK
PASSSFGSEAKAQQQEEQGSVNDVKEEEKEEKEVLPDQVEEEEENDDQEEEEEDEDDEDD
EEEDRMEVGPFSTGQESPTAENARLLAQKRGALQGSAWQVSSEDVRWDTFPLGRMPGQTE
DPAELMLENYDTMYLLDQPVLEQRLEPSTCKTDTLGLSCGVGSGNCSNSSSSNFEGLLWS
QGQLHGLKTGLQLF
Sequence length 734
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Major pathway of rRNA processing in the nucleolus and cytosol
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Global developmental delay Likely pathogenic; Pathogenic rs1057518699 RCV000415340
Wilson-Turner syndrome Pathogenic; Likely pathogenic rs1173514495, rs1057518699, rs1602612611 RCV000239552
RCV000239589
RCV000824689
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Uncertain significance rs2522633258 RCV003128061
Intellectual disability Conflicting classifications of pathogenicity; Likely benign rs200862250, rs777611742 RCV001252303
RCV001252302
LAS1L-related disorder Benign; Likely benign rs141099046, rs369263577, rs2522725550, rs750470319, rs745356580 RCV003919014
RCV003929194
RCV003897001
RCV003905728
RCV003937929
Neurodevelopmental disorder Uncertain significance rs2148286671 RCV001374967
Show/Hide Text Mining Associations (11)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 32193494
Beta ketothiolase deficiency Associate 35627110
Dyspnea Associate 35627110
Intellectual Disability Associate 31288032
Mental Retardation X Linked Syndromic Christianson Type Associate 34653234
Motor Neuron Disease Associate 31288032
Muscle Hypotonia Associate 35627110
Respiratory Insufficiency Associate 35627110
Severe infantile axonal neuropathy Associate 35627110
Spinal muscular atrophy with respiratory distress 1 Associate 35627110